Table 1.
List of somatic mutations.
| Gene | Exon | Nucleotide variation | Amino acid change | Mutation abundance |
|---|---|---|---|---|
| PIK3CA | exon10 | c.1624G>A | p.E542K | 1.14% |
| TP53 | exon6 | c.637C>T | p.R213* | 14.37% |
| FANCM | exon20 | c.5237C>G | p.S1746* | 1.18% |
| PTEN | exon6 | c.631T>C | p.C211R | 9.78% |
| PALB2 | exon4 | c.1366G>C | p.E456Q | 8.04% |
| ATR | exon3 | c.157G>C | p.V53L | 4.35% |
| GATA3 | exon3 | c.388C>T | p.L130F | 23.42% |
| HNF1A | exon2 | c.331G>A | p.D111N | 12.28% |
| JAK2 | exon22 | c.2951T>G | p.V984G | 11.49% |
| NTRK3 | exon14 | c.1540C>A | p.P514T | 10.60% |
| MAP3K1 | exon1 | c.212A>T | p.D71V | 1.50% |
The asterisk symbol (*) indicates the ending amino acid position during translation upon a stop codon (or termination codon) that is a codon for transcription termination signal. The single letter is for the abbrreviation of amino acids and the number is for the position of an amino acid) in the "amino acid change" column.